Impact
Mary Armanios is a physician-scientist at Johns Hopkins who studies diseases caused by telomere dysfunction, a mechanistic link between ageing biology and specific human disorders. Telomere-shortening syndromes were first recognised in dyskeratosis congenita, a rare premature-ageing syndrome that predisposes to bone marrow failure and cancer. Her group showed that mutations in essential telomerase components cause familial idiopathic pulmonary fibrosis (New England Journal of Medicine, 2007), and her Hopkins profile states that such mutations are the most common known cause of the disease and its familial forms. Later work identified NAF1 loss-of-function mutations in familial pulmonary fibrosis-emphysema, evaluated the diagnostic use of clinical telomere length measurement, described familial clonal haematopoiesis in a long-telomere syndrome (NEJM, 2023) and linked T cell immune deficiency to squamous cancers in short-telomere syndromes (Cancer Cell, 2023). She directs the Telomere Center at Johns Hopkins, whose multidisciplinary Telomere Clinic at the Sidney Kimmel Comprehensive Cancer Center cares for patients with suspected telomere disorders, and is Associate Director of Cancer Research Career Enhancement at the Kimmel Cancer Center. She is Professor of Oncology, with additional professorships in Genetic Medicine, Molecular Biology and Genetics, and Pathology.
Metrics
Research output
109 works · 11,229 citations · h-index 50 OpenAlex ↗
Selected publications
- Telomerase Mutations in Families with Idiopathic Pulmonary Fibrosis ↗ 2007 · 1,370 citations
- The telomere syndromes ↗ 2012 · 991 citations
- Short telomeres are a risk factor for idiopathic pulmonary fibrosis ↗ 2008 · 815 citations
- Haploinsufficiency of t e lomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita ↗ 2005 · 456 citations
- Telomeres and age-related disease: how telomere biology informs clinical paradigms ↗ 2013 · 355 citations
Research funding
41 NIH awards · USD 17M total NIH RePORTER ↗
- Mechanisms of DNA damage induced emphysema National Heart Lung and Blood Institute · 2021 · USD 679K
- Cancer Genetics of Long Telomere Syndromes National Cancer Institute · 2026 · USD 646K
- Cancer Genetics of Long Telomere Syndromes National Cancer Institute · 2025 · USD 635K
- Mechanisms of DNA damage induced emphysema National Heart Lung and Blood Institute · 2022 · USD 627K
- Molecular Targets for Cancer Detection and Treatment National Cancer Institute · 2020 · USD 606K